Variant report

Variant	rs334126
Chromosome Location	chr2:179037071-179037072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179031170..179033889-chr2:179035813..179038780,2	K562	blood:
2	chr2:179036324..179039392-chr2:179042351..179044542,3	K562	blood:
3	chr2:179034919..179037677-chr2:179039354..179042272,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10187205	0.83[ASN][1000 genomes]
rs10197166	0.87[JPT][hapmap]
rs10930823	0.86[ASN][1000 genomes]
rs12471750	0.82[ASN][1000 genomes]
rs12693155	0.87[ASN][1000 genomes]
rs13013858	0.87[ASN][1000 genomes]
rs13389850	0.88[ASN][1000 genomes]
rs17638592	0.94[ASN][1000 genomes]
rs186736	0.81[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs232042	0.81[ASN][1000 genomes]
rs2366157	0.86[JPT][hapmap]
rs2366365	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs333995	0.80[JPT][hapmap]
rs333996	0.87[JPT][hapmap]
rs334002	0.80[JPT][hapmap]
rs334005	0.87[JPT][hapmap]
rs334007	0.87[JPT][hapmap]
rs334014	0.80[JPT][hapmap]
rs334017	0.87[JPT][hapmap]
rs334035	0.87[JPT][hapmap]
rs334040	0.86[JPT][hapmap]
rs334042	0.86[JPT][hapmap]
rs334045	0.86[JPT][hapmap]
rs334079	0.92[ASN][1000 genomes]
rs334080	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs334081	0.81[ASN][1000 genomes]
rs334092	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs334094	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334102	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs334103	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs334110	0.93[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes]
rs334115	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs334117	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs334122	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs334128	0.94[ASN][1000 genomes]
rs334132	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334133	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35480930	0.85[ASN][1000 genomes]
rs407528	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs437385	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs437523	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894001	0.81[ASN][1000 genomes]
rs6719178	0.86[JPT][hapmap]
rs7581504	0.93[JPT][hapmap];0.82[YRI][hapmap]
rs7589907	0.87[ASN][1000 genomes]
rs7591476	0.81[ASN][1000 genomes]
rs7595650	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs930191	0.81[ASN][1000 genomes]
rs9989738	0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875453	chr2:179022751-179060313	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875454	chr2:179022751-179066443	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179032000-179038600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:179037000-179056600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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